{"id":28233,"date":"2026-08-24T10:00:43","date_gmt":"2026-08-24T10:00:43","guid":{"rendered":"https:\/\/www.dlongwood.com\/?post_type=productos&#038;p=28233"},"modified":"2026-08-24T10:05:52","modified_gmt":"2026-08-24T10:05:52","slug":"msk-access-powered-with-sophia-ddm","status":"publish","type":"productos","link":"https:\/\/www.dlongwood.com\/en\/product-catalog\/msk-access-powered-with-sophia-ddm\/","title":{"rendered":"MSK-ACCESS\u00ae powered with SOPHiA DDM&#x2122;"},"content":{"rendered":"\n<!-- Complete HTML ready for WordPress \/ Bricks -->\n<style>\n  .dlw-prod-wrapper {\n    --dlw-blue-dark: #003a70;\n    --dlw-blue-cyan: #00a1e0;\n    --dlw-light-bg: #f9fbfd;\n    --dlw-grey-bg: #f4f6f8;\n    --dlw-border: #e1e8f0;\n    --dlw-grey: #939598;\n    width: 100% !important;\n    max-width: 720px !important;\n    margin: 0 auto !important;\n    color: #263746;\n    font-family: \"Raleway\", Arial, sans-serif;\n    font-size: 16px;\n    line-height: 1.7;\n    overflow-wrap: 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1px solid var(--dlw-border);\n      background: #fff;\n    }\n\n    .dlw-table tbody th,\n    .dlw-table tbody td {\n      border: 0;\n    }\n\n    .dlw-table tbody th {\n      padding: 12px 14px;\n      background: var(--dlw-blue-dark);\n      color: #fff;\n    }\n\n    .dlw-table tbody td::before {\n      display: block;\n      margin-bottom: 7px;\n      color: var(--dlw-blue-cyan);\n      font-weight: 700;\n      content: \"Gene list \/ details\";\n    }\n\n    .dlw-meta-row {\n      grid-template-columns: 1fr;\n    }\n\n    .dlw-meta-label {\n      padding-bottom: 6px;\n    }\n\n    .dlw-meta-value {\n      padding-top: 6px;\n    }\n  }\n<\/style>\n\n<article class=\"dlw-prod-wrapper\">\n\n  <div class=\"dlw-intro\">\n    <p>In-house liquid biopsy solution based on hybrid-capture next-generation sequencing (NGS) technology for the ultrasensitive detection of somatic alterations in circulating cell-free DNA from plasma. Developed in collaboration with Memorial Sloan Kettering Cancer Center (MSK), it implements a robust matched tumor-normal sequencing approach (plasma cfDNA + white blood cell DNA) to filter germline variants and mutations arising from clonal hematopoiesis (CHIP).<\/p>\n  <\/div>\n\n  <h2>Detailed description<\/h2>\n\n  <h3>Operating principle<\/h3>\n\n  <p>The decentralized MSK-ACCESS\u00ae powered with SOPHiA DDM&#x2122; solution enables laboratories to implement locally the globally recognized clinical liquid biopsy assay developed by MSK, while retaining full control over their samples, data and turnaround times.<\/p>\n\n  <p>The fundamental analytical pillar of this assay is its matched tumor-normal approach: circulating cell-free DNA (cfDNA) extracted from the patient\u2019s plasma and normal DNA obtained from peripheral blood white blood cells (WBCs, from the buffy coat) are processed jointly and simultaneously.<\/p>\n\n  <p>The protocol integrates specific adapters with CUMIN\u00ae molecular barcodes and unique dual index (UDI) primers. Molecular tagging technology enables the generation of single-read consensus sequences to correct technical PCR errors and sequencing artefacts, allowing ultrasensitive detection with a limit of detection (LOD) of 0.5% variant allele frequency (VAF).<\/p>\n\n  <div class=\"dlw-image-wrap\">\n    <img decoding=\"async\" src=\"https:\/\/www.dlongwood.com\/wp-content\/uploads\/2026\/08\/1-eng-5.webp\" alt=\"MSK-ACCESS powered with SOPHiA DDM workflow\" class=\"dlw-prod-img\" loading=\"lazy\" onclick=\"openDlwModal(this.src, this.alt)\" title=\"\">\n  <\/div>\n\n  <p>Following targeted hybrid-capture enrichment for 147 cancer-associated genes, the libraries are sequenced at high depth on Illumina, Complete Genomics or Element Biosciences platforms. Secondary and tertiary analyses are performed on the cloud-based SOPHiA DDM&#x2122; platform, which automates molecular quality control and variant filtering. The platform connects directly to OncoKB&#x2122;\u2014MSK\u2019s precision oncology knowledge base\u2014and the integrated OncoPortal&#x2122; for clinical matching with targeted therapies and clinical trials.<\/p>\n\n  <h2>Complete gene list<\/h2>\n\n  <div class=\"dlw-table-wrap\">\n    <table class=\"dlw-table\">\n      <thead>\n        <tr>\n          <th scope=\"col\">Category<\/th>\n          <th scope=\"col\">Gene list \/ details<\/th>\n        <\/tr>\n      <\/thead>\n      <tbody>\n        <tr>\n          <th scope=\"row\">Gene list<sup>a<\/sup><\/th>\n          <td>\n            AKT1 (3, 6, 7, 8, 9, 10, 11, 12), ALK (5, 9, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29), APC (complete CDS), AR (complete CDS), ARAF (7, 10, 11, 12, 13, 14, 15, 16), ARID1A (complete CDS), ARID2 (8), ASXL1 (complete CDS), ATM (complete CDS), B2M (1), BAP1 (complete CDS), BCL2 (2), BCOR (10), BRAF (11, 12, 13, 14, 15, 16, 17, 18), BRCA1 (complete CDS), BRCA2 (complete CDS), CARD11 (13), CBFB (2), CBL (9), CCND1 (5), CD79B (5), CDH1 (complete CDS), CDK12 (complete CDS), CDK4 (complete CDS), CDKN2A (complete CDS), CHEK2 (complete CDS), CIC (5), CREBBP (26, 27, 30), CTCF (6), CTNNB1 (3, 7, 8), DICER1 (27), DIS3 (10), DNMT3A (complete CDS), EGFR (3, 6, 7, 15, 18, 19, 20, 21, 22, 23, 24), EIF1AX (1, 2), EP300 (26, 27), ERBB2 (3, 6, 7, 8, 12, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 27), ERBB3 (3, 6, 7, 8, 9, 18, 19, 20, 21, 22, 23, 24), ERCC2 (complete CDS), ESR1 (5, 6, 7, 8<sup>b<\/sup>), EZH2 (16), FBXW7 (complete CDS), FGFR1 (12, 13, 14, 15, 16, 17, 18, 19), FGFR2 (3, 5, 7, 8, 9, 11, 12, 13, 14, 15, 16, 17, 18), FGFR3 (7, 9, 11, 12, 13, 14, 15, 16, 17, 18), FGFR4 (13), FLT3 (14, 20), FOXA1 (2), FOXL2 (complete CDS), FOXO1 (1), FOXP1 (14), FUBP1 (14), GATA3 (complete CDS), GNA11 (5), GNAQ (5), GNAS (6, 8, 9), H3F3A (2), HIST1H3B (complete CDS), HRAS (2, 3, 4), IDH1 (4, 5), IDH2 (4), IKZF1 (8), INPPL1 (2), JAK1 (19), JAK2 (14), KDM6A (complete CDS), KEAP1 (complete CDS), KIT (8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), KNSTRN (1), KRAS (complete CDS), MAP2K1 (2, 3, 4, 5, 6, 7, 8, 9, 10, 11), MAP2K2 (2, 3, 4, 5, 6, 7, 8, 9, 10, 11), MAPK1 (7), MAX (2, 4), MED12 (2, 26), MET (13, 14, 15, 16, 17, 18, 19, 20, 21), MLH1 (complete CDS), MSH2 (complete CDS), MSH3 (7), MSH6 (complete CDS), MTOR (29, 30, 31, 39, 40, 43, 44, 46, 47, 48, 49, 50, 53, 56, 57), MYC (2), MYCN (2), MYD88 (5), MYOD1 (1), NF1 (complete CDS), NFE2L2 (2), NOTCH1 (6, 8), NPM1 (11), NRAS (2, 3, 4), NTRK1 (13, 14, 15, 16, 17), NTRK2 (15, 16, 17, 18, 19), NTRK3 (15, 16, 17, 18, 19, 20), NUP93 (2), PAK5 (4), PALB2 (complete CDS), PDGFRA (5, 6, 7, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21), PHF6 (5, 9), PIK3CA (2, 3, 5, 6, 8, 9, 10, 11, 12, 14, 19, 20, 21), PIK3CB (24), PIK3R1 (10, 11, 13, 14), PIK3R2 (10), PIM1 (1), PMS2 (complete CDS), POLE (1, 9, 13), POT1 (6), PPM1D (complete CDS), PPP2R1A (5, 6), PPP6C (7), PRKCI (15), PTCH1 (complete CDS), PTEN (complete CDS), PTPN11 (3, 13), RAC1 (2), RAD54L (10), RAF1 (7, 10, 11, 12, 13, 14, 15, 16, 17), RB1 (complete CDS), RET (8, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19), RHOA (2, 3), RIT1 (5), ROS1 (36, 37, 38, 39, 40, 41, 42), RRAS2 (1, 3), RXRA (10), SETD2 (7), SF3B1 (14, 15, 18), SMAD3 (6), SMAD4 (complete CDS), SMARCA4 (19, 25, 26), SMARCB1 (9), SOS1 (5), SPOP (4, 5), SRSF2 (1), STAT3 (20), STK11 (complete CDS), STK19 (1), TCF7L2 (14), TET2 (complete CDS), TGFBR1 (4, 9), TGFBR2 (8), TP53 (complete CDS), TP63 (9, 14), TSC1 (complete CDS), TSC2 (complete CDS), U2AF1 (2, 6), VHL (complete CDS), XPO1 (15).\n          <\/td>\n        <\/tr>\n        <tr>\n          <th scope=\"row\">Fusions<\/th>\n          <td>ALK, BRAF, EGFR, ETV6, FGFR2, FGFR3, MET, NTRK1, RET, ROS1.<\/td>\n        <\/tr>\n        <tr>\n          <th scope=\"row\">CNVs (copy number variations)<\/th>\n          <td>AKT1, ALK, APC, AR, ARAF, ARID1A, ASXL1, ATM, BAP1, BRAF, BRCA1, BRCA2, CDH1, CDK12, CDK4, CDKN2A, CHEK2, CREBBP, DNMT3A, EGFR, EP300, ERBB2, ERBB3, ERCC2, ESR1, FBXW7, FGFR1, FGFR2, FGFR3, FOXA1, FOXL2, GATA3, KDM6A, KEAP1, KIT, KRAS, MAP2K1, MAP2K2, MET, MLH1, MSH2, MSH6, MTOR, MYC, MYCN, NF1, NTRK1, NTRK2, NTRK3, PAK5, PALB2, PDGFRA, PIK3CA, PIK3R1, PMS2, PPM1D, PTCH1, PTEN, RAF1, RB1, RET, ROS1, SF3B1, SMAD4, SMARCA4, STK11, TET2, TP53, TSC1, TSC2, VHL.<\/td>\n        <\/tr>\n        <tr>\n          <th scope=\"row\">Additional alterations<\/th>\n          <td>MET exon skipping and the TERT promoter.<\/td>\n        <\/tr>\n      <\/tbody>\n    <\/table>\n  <\/div>\n\n  <h2>Clinical applications<\/h2>\n\n  <div class=\"dlw-list\">\n    <span class=\"dlw-list-item\"><strong>Molecular profiling of solid tumors using liquid biopsy:<\/strong> comprehensive and ultrasensitive characterization of advanced or metastatic solid tumors when tumor tissue is unavailable, insufficient or highly invasive to obtain.<\/span>\n    <span class=\"dlw-list-item\"><strong>Dynamic longitudinal monitoring:<\/strong> real-time monitoring of tumor evolution, tumor burden and measurable residual disease (MRD).<\/span>\n    <span class=\"dlw-list-item\"><strong>Identification of resistance mechanisms:<\/strong> early detection of resistant clones and mutations acquired during targeted therapy, such as emerging ESR1 mutations in breast cancer treated with aromatase inhibitors.<\/span>\n    <span class=\"dlw-list-item\"><strong>Advanced somatic-germline-CHIP filtering:<\/strong> robust exclusion of clonal hematopoiesis (CHIP) mutations in oncogenes and tumor suppressor genes, such as TP53 or DNMT3A, which are frequently mistaken for true tumor mutations in assays without a matched WBC normal control.<\/span>\n  <\/div>\n\n  <h2>Benefits<\/h2>\n\n  <div class=\"dlw-list\">\n    <span class=\"dlw-list-item\"><strong>Integrated tumor-normal approach:<\/strong> accurately filters germline variants and clonal hematopoiesis (CHIP) mutations. Without this control, up to 23.9% of variants reported in plasma from cancer patients may actually correspond to CHIP or germline variants and may be misclassified as somatic or pathogenic by external tumor-only databases.<\/span>\n    <span class=\"dlw-list-item\"><strong>Validated analytical ultrasensitivity:<\/strong> achieves 99.3% concordance (PPA) with the centralized version of MSK-ACCESS at MSKCC, operating at an LOD of 0.5% VAF.<\/span>\n    <span class=\"dlw-list-item\"><strong>CUMIN\u00ae molecular barcodes:<\/strong> maximum accuracy and false-positive suppression through consensus reads in ultra-deep sequencing data (~20,000x).<\/span>\n  <\/div>\n\n  <h2>Intended users<\/h2>\n\n  <p>High-technology molecular diagnostic laboratories, hospital medical oncology departments, precision medicine centers and institutions conducting translational clinical research and clinical trials that require ultrasensitive liquid biopsy testing with Memorial Sloan Kettering Cancer Center\u2019s rigorous CHIP exclusion approach.<\/p>\n\n  <h2>Key features<\/h2>\n\n  <div class=\"dlw-list\">\n    <span class=\"dlw-list-item\">Ultrasensitive molecular profiling focused on an optimized panel of 147 key cancer-associated genes, designed using the genomic map generated from more than 25,000 tumors analyzed by MSKCC.<\/span>\n    <span class=\"dlw-list-item\">DNA-level detection of SNVs\/Indels (147 genes), CNVs (71 genes), intron-based fusions (10 genes), the TERT promoter and MET exon 14 skipping.<\/span>\n    <span class=\"dlw-list-item\">Matched tumor-normal approach: standardized requirements of &gt;20 ng of plasma cfDNA and &gt;50 ng of normal WBC gDNA, with the normal sample consuming only 10% of the sequencing capacity.<\/span>\n    <span class=\"dlw-list-item\">SOPHiA DDM&#x2122;-exclusive CUMIN\u00ae molecular barcode technology providing high analytical specificity (99.999%) and an analytical LOD of 0.5% VAF.<\/span>\n    <span class=\"dlw-list-item\">High interlaboratory and intralaboratory reproducibility, with an overall concordance of R<sup>2<\/sup> = 0.97.<\/span>\n    <span class=\"dlw-list-item\">Robust sequencing metrics: median duplex molecular coverage above 1,200x, on-target read rates of 89.5% for cfDNA and 89.0% for WBC, and molecular coverage uniformity of 95%.<\/span>\n    <span class=\"dlw-list-item\">Validated compatibility with Illumina sequencers (NovaSeq 6000, NovaSeq X and NextSeq 2000), Complete Genomics DNBSEQ-T7 and Element Biosciences AVITI.<\/span>\n    <span class=\"dlw-list-item\">Direct bioinformatics access from the viewer to OncoKB&#x2122; and SOPHiA DDM&#x2122; OncoPortal&#x2122; for automated preclassification and support in therapeutic matching.<\/span>\n  <\/div>\n\n  <h2>Product details<\/h2>\n\n  <div class=\"dlw-meta\">\n    <div class=\"dlw-meta-row\">\n      <div class=\"dlw-meta-label\">Commercial name<\/div>\n      <div class=\"dlw-meta-value\">MSK-ACCESS\u00ae powered with SOPHiA DDM&#x2122;.<\/div>\n    <\/div>\n\n    <div class=\"dlw-meta-row\">\n      <div class=\"dlw-meta-label\">Product type<\/div>\n      <div class=\"dlw-meta-value\">Bundle solution (wet-lab reagents + analytical credits for the cloud-based SOPHiA DDM&#x2122; platform).<\/div>\n    <\/div>\n\n    <div class=\"dlw-meta-row\">\n      <div class=\"dlw-meta-label\">Product family<\/div>\n      <div class=\"dlw-meta-value\">Decentralized NGS liquid biopsy solution.<\/div>\n    <\/div>\n\n    <div class=\"dlw-meta-row\">\n      <div class=\"dlw-meta-label\">Product code<\/div>\n      <div class=\"dlw-meta-value\">BS2549ILLRSDY14-32.<\/div>\n    <\/div>\n\n    <div class=\"dlw-meta-row\">\n      <div class=\"dlw-meta-label\">Sample type<\/div>\n      <div class=\"dlw-meta-value\">cfDNA from blood plasma and gDNA from white blood cells obtained from the buffy coat.<\/div>\n    <\/div>\n  <\/div>\n\n  <h3>What does the solution include?<\/h3>\n\n  <div class=\"dlw-list\">\n    <span class=\"dlw-list-item\">SOPHiA GENETICS Universal Library Prep reagents for fragmented DNA library preparation.<\/span>\n    <span class=\"dlw-list-item\">Specific indexed adapters compatible with CUMIN\u00ae molecular barcodes.<\/span>\n    <span class=\"dlw-list-item\">Hybridization and targeted-capture probes based on the 147-gene MSK-ACCESS design.<\/span>\n    <span class=\"dlw-list-item\">Full access and analytical credits for secondary and tertiary analysis on the SOPHiA DDM&#x2122; platform.<\/span>\n  <\/div>\n\n  <h3>Required reagents and materials not included in the kit<\/h3>\n\n  <div class=\"dlw-list\">\n    <span class=\"dlw-list-item\">Specialized blood collection and preservation tubes (Streck Cell-Free DNA BCT\u00ae).<\/span>\n    <span class=\"dlw-list-item\">Specific cfDNA extraction and purification kits.<\/span>\n    <span class=\"dlw-list-item\">Genomic DNA extraction kits for WBC samples.<\/span>\n    <span class=\"dlw-list-item\">Fluorometric quantification equipment and reagents, and nucleic acid quality-control systems such as Qubit&#x2122; or TapeStation&#x2122;.<\/span>\n    <span class=\"dlw-list-item\">Platform-specific Illumina sequencing reagents and Illumina PhiX v3 control.<\/span>\n  <\/div>\n<\/article>\n\n<div class=\"dlw-modal\" id=\"dlwImageModal\" role=\"dialog\" aria-modal=\"true\" aria-label=\"Enlarged image\">\n  <button class=\"dlw-modal-close\" type=\"button\" aria-label=\"Close image\" onclick=\"closeDlwModal()\">\u00d7<\/button>\n  <img decoding=\"async\" id=\"dlwModalImage\" src=\"\" alt=\"\" title=\"\">\n<\/div>\n\n<script>\n  (function () {\n    var modal = document.getElementById(\"dlwImageModal\");\n    var modalImage = document.getElementById(\"dlwModalImage\");\n\n    window.openDlwModal = function (source, alternativeText) {\n      if (!modal || !modalImage) return;\n      modalImage.src = source;\n      modalImage.alt = alternativeText || \"\";\n      modal.classList.add(\"dlw-is-open\");\n      document.body.style.overflow = \"hidden\";\n    };\n\n    window.closeDlwModal = function () {\n      if (!modal || !modalImage) return;\n      modal.classList.remove(\"dlw-is-open\");\n      modalImage.src = \"\";\n      document.body.style.overflow = \"\";\n    };\n\n    if (modal) {\n      modal.addEventListener(\"click\", function (event) {\n        if (event.target === modal) {\n          window.closeDlwModal();\n        }\n      });\n    }\n\n    document.addEventListener(\"keydown\", function (event) {\n      if (\n        event.key === \"Escape\" &&\n        modal &&\n        modal.classList.contains(\"dlw-is-open\")\n      ) {\n        window.closeDlwModal();\n      }\n    });\n  })();\n<\/script>\n","protected":false},"excerpt":{"rendered":"<p>In-house liquid biopsy solution based on hybrid-capture next-generation sequencing (NGS) technology for the ultrasensitive detection of somatic alterations in circulating cell-free DNA from plasma. Developed in collaboration with Memorial Sloan Kettering Cancer Center (MSK), it implements a robust matched tumor-normal sequencing approach (plasma cfDNA + white blood cell DNA) to filter germline variants and mutations [&hellip;]<\/p>\n","protected":false},"featured_media":28224,"template":"","tecnologias":[36],"marcas":[215],"familias":[347,465,466,461,459,467,462,468,469,458,470,464],"class_list":["post-28233","productos","type-productos","status-publish","has-post-thumbnail","hentry","tecnologias-next-generation-sequencing-ngs","marcas-sophia-genetics-en","familias-solid-tumor","familias-digestive-system","familias-endocrine-system","familias-hrd-en","familias-liquid-biopsy","familias-nervous-system","familias-pan-cancer","familias-reproductive-system","familias-respiratory-system","familias-skin","familias-soft-tissues","familias-tumor-types"],"_links":{"self":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/28233","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos"}],"about":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/types\/productos"}],"version-history":[{"count":1,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/28233\/revisions"}],"predecessor-version":[{"id":28234,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/productos\/28233\/revisions\/28234"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media\/28224"}],"wp:attachment":[{"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/media?parent=28233"}],"wp:term":[{"taxonomy":"tecnologias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/tecnologias?post=28233"},{"taxonomy":"marcas","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/marcas?post=28233"},{"taxonomy":"familias","embeddable":true,"href":"https:\/\/www.dlongwood.com\/en\/wp-json\/wp\/v2\/familias?post=28233"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}